Canonical Allele Identifier: CA645604847
Gene: NPHS1 HGNC NCBI

Linked Data

COSMIC: COSM4566406
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826554_35826555delinsAA , CM000681.2:g.35826554_35826555delinsAA GRCh38
NC_000019.9:g.36317456_36317457delinsAA , CM000681.1:g.36317456_36317457delinsAA GRCh37
NC_000019.8:g.41009296_41009297delinsAA NCBI36
NG_013356.2:g.47733_47734delinsTT , LRG_693:g.47733_47734delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.3685_3686delinsTT MANE Select ENSP00000368190.4:p.Pro1229Phe
ENST00000353632.6:c.3565_3566delinsTT ENSP00000343634.5:p.Pro1189Phe
ENST00000378910.9:c.3685_3686delinsTT ENSP00000368190.4:p.Pro1229Phe
NM_004646.3:c.3685_3686delinsTT , LRG_693t1:c.3685_3686delinsTT NP_004637.1:p.Pro1229Phe
NM_004646.4:c.3685_3686delinsTT MANE Select NP_004637.1:p.Pro1229Phe
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